Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias

Many of the newly recognized clinically significant genetic markers in pediatric leukemias cannot be reliably detected by routine diagnostic assays; they remain cryptic by karyotype analysis and are typically not interrogated by FISH testing or by diagnostic next-generation sequencing panels.

In this webinar, Dr. Raca presents results of a pilot study in which Optical Genome Mapping (OGM) revealed clinically significant structural variants in pediatric leukemias, which were missed by comprehensive multi-modal clinical testing. She also illustrates the application of OGM to study a rare structural abnormality of the PAX5 gene in pediatric B-lymphoblastic leukemia, which could not be accurately characterized by other molecular methods.